Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPC24_chr19_11140493_11160782	11146465	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG03654.hp2 HG01361.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0146 a0001c0001t0104 a0001c0001t0146	a0001c0001t0104g0239 a0001c0001t0146g0076 a0001c0001t0104g0239 a0001c0001t0146g0076	2	438	0.0046	35	c.71 others(44): Show c.717_*718insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	5/5	717		chr19	TogoVar
SPDYE1_chr7_43992897_44015124	43995866	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0058 a0003c0003t0003g0058	1	394	0.0025	35	c.-25 others(46): Show c.-2516_-2515insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG T	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		2030		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24383792	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	326	0.0031	35	c.308 others(56): Show c.3087+14478_3087+14512dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0023 a0004c0005t0023	a0004c0005t0023g0225 a0004c0005t0023g0225	1	250	0.0040	35	c.-22 others(54): Show c.-22+12279_-22+12280insATATATATATATATATATATATATAT ATTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPECC1_chr17_20004359_20324026	20021702	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19068.hp1 NA18975.hp2 NA19068.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0228 a0004c0005t0008g0229 a0004c0005t0008g0228 a0004c0005t0008g0229	2	250	0.0080	35	c.-22 others(54): Show c.-22+12279_-22+12280insATATATATATATATATATATATATAT TTTTTTTTT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPEF2_chr5_35612863_35819611	35614363	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0038 a0038	a0038c0034 a0038c0034	a0038c0034t0001 a0038c0034t0001	a0038c0034t0001g0019 a0038c0034t0001g0019	1	268	0.0037	35	c.-36 others(46): Show c.-3635_-3634insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding		3499		chr5	TogoVar
SPHK2_chr19_48614506_48635405	48616643	C C	CCAGCACA others(28): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02056.hp2 HG00544.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0020 a0001c0001t0001g0038	2	398	0.0050	35	c.-30 others(46): Show c.-3014_-3013insCAGCACAGCACAGCACAGCACAGCACAGCACAGC A	SPHK2	ENSG00000063176.16	transcript	ENST00000245222.9	protein_coding		2862		chr19	TogoVar
SPHKAP_chr2_227974955_228186687	228092407	A A	ACATATAT others(28): Show ACATATATACATATATACATATATGTATATATGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0103 a0003c0006t0001g0103	1	322	0.0031	35	c.246 others(54): Show c.246+16390_246+16424dupGCACATATATACATATATGTATATAT GTATATATG	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0206 a0004c0004t0003g0206	1	322	0.0031	35	c.33- others(50): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPINK5_chr5_148058980_148142382	148123414	T T	TTATATAT others(28): Show TTATATATAGATAGATATTATCTATCTATCTATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02559.hp1 HG03209.hp1 others(1): Show HG01069.hp1 HG02559.hp1 HG03209.hp1 HG03579.hp2	a0006 a0017 a0006 a0017	a0006c0012 a0017c0023 a0006c0012 a0017c0023	a0006c0012t0007 a0017c0023t0001 a0006c0012t0007 a0017c0023t0001	a0006c0012t0007g0004 a0017c0023t0001g0300 a0006c0012t0007g0004 a0017c0023t0001g0300	4	384	0.0104	35	c.253 others(52): Show c.2539-411_2539-410insGATAGATATTATCTATCTATCTATATAT ATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123414	T T	TTATATAT others(28): Show TTATATATAGATAGATATTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	384	0.0026	35	c.253 others(52): Show c.2539-411_2539-410insGATAGATATTATCTATCTATCTATCTAT ATATATA	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0319 a0003c0008t0003g0319	1	328	0.0031	35	c.372 others(54): Show c.372+19716_372+19717insATATATATATATATATATTTTTTTTT TTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	328	0.0031	35	c.372 others(54): Show c.372+19716_372+19717insATATATATATATATATATATATTTTT TTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	356	0.0028	35	c.180 others(52): Show c.1807-513_1807-512insAAAAAAAAAAAAAAATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	356	0.0028	35	c.180 others(52): Show c.1807-513_1807-512insAAAAAAAAAAATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19080.hp1 NA18612.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0238 a0001c0001t0001g0209 a0001c0001t0001g0238	2	356	0.0056	35	c.180 others(52): Show c.1807-513_1807-512insAAAAAAAAATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18971.hp1 NA19079.hp2 HG00673.hp2 NA18971.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0183 a0001c0001t0001g0218 a0001c0001t0004g0259 a0001c0001t0001g0183 a0001c0001t0001g0218 a0001c0001t0004g0259	3	356	0.0084	35	c.180 others(52): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAC others(28): Show AAAAAAACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0329 a0001c0001t0003g0329	1	356	0.0028	35	c.180 others(52): Show c.1807-513_1807-512insAAAAACATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp2 HG01256.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0004 a0001c0001t0015	a0001c0001t0004g0262 a0001c0001t0015g0229 a0001c0001t0004g0262 a0001c0001t0015g0229	2	356	0.0056	35	c.180 others(52): Show c.1807-513_1807-512insAAAAATATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	356	0.0028	35	c.180 others(52): Show c.1807-513_1807-512insAAATATATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	356	0.0028	35	c.180 others(52): Show c.1807-513_1807-512insATATATATATATATATATATATATATAT ATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4494974	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02572.hp2 HG03098.hp2 HG00558.hp1 HG02572.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0025 a0001c0003t0004 a0001c0001t0002 a0001c0001t0025 a0001c0003t0004	a0001c0001t0002g0126 a0001c0001t0025g0173 a0001c0003t0004g0351 a0001c0001t0002g0126 a0001c0001t0025g0173 a0001c0003t0004g0351	3	404	0.0074	35	c.-40 others(46): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0103 a0003c0008t0003g0103	1	362	0.0028	35	c.111 others(54): Show c.1114-9849_1114-9848insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31808796	A A	AAATTATA others(28): Show AAATTATATAGATTAATAAAATTAATTATATAGATT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18972.hp1 NA19060.hp1 HG00544.hp1 NA18972.hp1 NA19060.hp1	a0020 a0021 a0023 a0020 a0021 a0023	a0020c0026 a0021c0025 a0023c0027 a0020c0026 a0021c0025 a0023c0027	a0020c0026t0001 a0021c0025t0001 a0023c0027t0002 a0020c0026t0001 a0021c0025t0001 a0023c0027t0002	a0020c0026t0001g0252 a0021c0025t0001g0253 a0023c0027t0002g0254 a0020c0026t0001g0252 a0021c0025t0001g0253 a0023c0027t0002g0254	3	260	0.0115	35	c.138 others(54): Show c.1383+5154_1383+5155insAATCTATATAATTAATTTTATTAATC TATATAATT	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	260	0.0039	35	c.-12 others(46): Show c.-1200_-1199insAAAAAAAAATATATATATATATATATATATATAT A	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	260	0.0039	35	c.-12 others(46): Show c.-1200_-1199insAAAAAAAAAAATATATATATATATATATATATAT A	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	224	0.0045	35	c.69 others(46): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPRR1B_chr1_153026203_153037900	153028185	G G	GCACTCCT others(28): Show GCACTCCTGAGTGTCTATTGTTCCCACCTTTGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18973.hp1 NA18990.hp2 others(2): Show NA18971.hp2 NA18973.hp1 NA18990.hp2 NA19003.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	5	444	0.0113	35	c.-30 others(46): Show c.-3082_-3081insCACTCCTGAGTGTCTATTGTTCCCACCTTTGTGT C	SPRR1B	ENSG00000169469.9	transcript	ENST00000307098.5	protein_coding		3017		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(28): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0209 a0001c0001t0102g0209	1	231	0.0043	35	c.-28 others(54): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPTBN1_chr2_54451327_54676446	54522704	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0073 a0001c0003t0003g0073	1	370	0.0027	35	c.-47 others(52): Show c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54576055	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0007 a0001c0018t0007	a0001c0018t0007g0112 a0001c0018t0007g0112	1	370	0.0027	35	c.149 others(54): Show c.149-23020_149-23019insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	C C	CAGAAAAG others(28): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	444	0.0023	35	c.61- others(50): Show c.61-4369_61-4335dupTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SRC_chr20_37341140_37411050	37360218	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	282	0.0036	35	c.-24 others(54): Show c.-246-4966_-246-4965insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0141 a0001c0002t0005g0141	1	352	0.0028	35	c.91+ others(50): Show c.91+7521_91+7522insATATATATATTTTTTTTTTTTTTTTTTTTT TTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02451.hp2 HG02647.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0008 a0001c0002 a0005c0008	a0001c0002t0005 a0005c0008t0005 a0001c0002t0005 a0005c0008t0005	a0001c0002t0005g0138 a0005c0008t0005g0137 a0001c0002t0005g0138 a0005c0008t0005g0137	2	352	0.0057	35	c.91+ others(50): Show c.91+7521_91+7522insATATATATATATATTTTTTTTTTTTTTTTT TTTTT	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18			chr17	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18962.hp1 HG00280.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0033 a0001c0003t0012g0036 a0001c0003t0012g0033 a0001c0003t0012g0036	2	342	0.0059	35	c.206 others(52): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0165 a0001c0003t0032g0165	1	182	0.0055	35	c.68- others(52): Show c.68-23682_68-23681insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP19_chr5_112856287_112874788	112871244	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	35	c.37 others(46): Show c.3707_*3708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SRP19	ENSG00000153037.15	transcript	ENST00000505459.6	protein_coding		1457		chr5	TogoVar
SRP68_chr17_76033785_76077517	76062578	C C	CATTATAT others(28): Show CATTATATATTATATAATATATAATGTACATTATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0309 a0001c0003t0001g0309	1	365	0.0027	35	c.562 others(52): Show c.562-1005_562-1004insATATAATGTACATTATATATTATATAAT ATATAAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062578	C C	CATTATAT others(28): Show CATTATATATTATATATTATATAATATACATTATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02109.hp1 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0331 a0001c0003t0001g0332 a0001c0003t0001g0331 a0001c0003t0001g0332	2	365	0.0055	35	c.562 others(52): Show c.562-1005_562-1004insATATAATGTATATTATATAATATATAAT ATATAAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	342	0.0029	35	c.478 others(52): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT TTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01361.hp1 NA18985.hp2 HG00741.hp1 HG01361.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0146 a0001c0001t0001g0175 a0001c0001t0001g0182	3	352	0.0085	35	c.-28 others(46): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24640541	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	352	0.0028	35	c.-27 others(46): Show c.-2786_-2785insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA C	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2760		chr1	TogoVar
SRXN1_chr20_641615_658200	642391	G G	GGCCCAGC others(28): Show GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	2	422	0.0047	35	c.63 others(46): Show c.6322_*6323insGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG C	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4223		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62183065	C C	CGGGAGCG others(28): Show CGGGAGCGGGGAGCGGGGAGCGGGGAGCGGGGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0019 a0002c0003t0005g0019	1	316	0.0032	35	c.38 others(46): Show c.3857_*3858insGGGAGCGGGGAGCGGGGAGCGGGGAGCGGGGAGC G	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding		552		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 NA18943.hp1 HG00621.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0020 a0001c0001t0028g0031 a0001c0001t0028g0020 a0001c0001t0028g0031	2	206	0.0097	35	c.45 others(46): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP3_chr1_54220432_54411394	54276608	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0105 a0001c0001t0004g0105	1	280	0.0036	35	c.366 others(52): Show c.366+4829_366+4830insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	5/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(28): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0278 a0001c0002t0028g0278	1	280	0.0036	35	c.276 others(52): Show c.276+5667_276+5668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSB_chr2_169793871_169817064	169800534	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19005.hp1 NA18943.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0002g0101 a0001c0001t0001g0100 a0001c0001t0002g0101	2	426	0.0047	35	c.-9- others(48): Show c.-9-399_-9-398insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SSC4D_chr7_76384337_76414697	76394799	A A	ATATATAA others(28): Show ATATATAAGATATATATAATATATATGATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0098 a0001c0004t0003g0098	1	388	0.0026	35	c.946 others(50): Show c.946+453_946+454insAATATATATCATATATATTATATATATCTT ATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	7/10			chr7	TogoVar

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